Global Variome shared LOVD

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Phenotype #0000300974 Individual ID 00408856 Associated disease - Phenotype details VA: Light perception, macular atrophy, Abnormal pigmenta- tion of the macula at diagnosis, RPE changes in periphery; macular atrophy at age 2 Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 2y (2 years) Age/Diagnosis 4m Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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